USP17L6P

ubiquitin specific peptidase 17 like family member 6, pseudogene

Basic information

Region (hg38): 4:9367874-9369070

Links

ENSG00000205946

∙ NCBI:391622 ∙ ∙ HGNC:37179 ∙ Uniprot:Q6QN14 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the USP17L6P gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the USP17L6P gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function: FUNCTION: Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, cell migration, and the cellular response to viral infection. Seems to be non-functional in the regulation of apoptosis. {ECO:0000269|PubMed:17109758}.;

Gene ontology

Biological process: protein deubiquitination;regulation of apoptotic process;protein deubiquitination involved in ubiquitin-dependent protein catabolic process;regulation of epithelial cell apoptotic process
Cellular component: nucleus;cytoplasm
Molecular function: RNA binding;cysteine-type endopeptidase activity;thiol-dependent ubiquitin-specific protease activity;hyaluronic acid binding